ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.2035T>C (p.Phe679Leu)

gnomAD frequency: 0.00001  dbSNP: rs776831481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622973 SCV000742082 uncertain significance Inborn genetic diseases 2017-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010595 SCV005640032 uncertain significance BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 2024-03-24 criteria provided, single submitter clinical testing

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